Patient with 13q Deletion Syndrome speaks 3 languages and is an artist

SERMO doctors from around the world have been sharing “stethoscope stories” in the community for National Heart Month. In honor of Rare Disease Day & Heart Month, we’re sharing a story from a Canadian Pediatrician about a little girl who had the 13q Deletion Syndrome associated with bilateral retinoblastoma, developmental challenges, & motor delay.

We have all experience the difficulty of calming a child with developmental challenges, even for a physical examination. My young patient loved playing with my stethoscope, so I let her do that when I examine her. It turned out that children with 13q Deletion Syndrome are actually handicapped more by their severe hypotonia than their developmental challenges. They are often late in learning to speak, walk, eat, and doing things with their hands. They do eventually learn to speak with a scanning (hesitant speech caused by the severe hypotonia) so they appear to be more severely developmental challenge than they are actually. This is worsened by their poor or little vision because of their bilateral retinoblastoma.

One day, when my patient was 5 years old, she suddenly pointed at my stethoscope & asked, “What is this?” I told her.

At her next visit, to my surprise, she remembered the word stethoscope. She next pointed at the ophthalmoscope & asked, “What is this?” I told her.

At her next visit, she again remembered the words stethoscope & ophthalmoscope. She then pointed at the sphygmomanometer & asked, “What is this?” I told her.

At her next visit, she also remembered the words stethoscope, ophthalmoscope & sphygmomanometer. And so on, & so forth.

After she learned to speak, she became trilingual because of having one French Canadian parent & one South American parent. We noticed that she would speak with a French accent whenever she spoke to a French Canadian doctor. Likewise, she would speak with a Spanish accent when she spoke to a Spanish-speaking doctor.

Now, she has also become an accomplished artist.

So much for the poor fine motor skills in patients with the 13q Deletion Syndrome! It is mostly due to the effect of the severe hypotonia, which improves over years.